ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys)

gnomAD frequency: 0.00003  dbSNP: rs563387839
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774071 SCV000907771 uncertain significance Cardiomyopathy 2022-12-21 criteria provided, single submitter clinical testing This missense variant replaces asparagine with lysine at codon 1051 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSP-related disorders in the literature. This variant has been identified in 1/31400 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001034964 SCV001198268 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-08-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1051 of the DSP protein (p.Asn1051Lys). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DSP-related conditions. ClinVar contains an entry for this variant (Variation ID: 629369). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002501003 SCV002790062 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027261 SCV003626433 uncertain significance Cardiovascular phenotype 2022-06-24 criteria provided, single submitter clinical testing The c.3153C>A (p.N1051K) alteration is located in exon 23 (coding exon 23) of the DSP gene. This alteration results from a C to A substitution at nucleotide position 3153, causing the asparagine (N) at amino acid position 1051 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003480809 SCV004227188 uncertain significance not provided 2023-02-23 criteria provided, single submitter clinical testing BP4

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